Variant report

Variant	rs3120653
Chromosome Location	chr1:152284854-152284855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152284827-152284877	LNCaP	prostate:	n/a
2	chr1:152284827-152284877	GM12878	blood:	n/a
3	chr1:152284827-152284877	SK-N-SH	brain:	n/a
4	chr1:152284827-152284877	SKMC	muscle:	n/a
5	chr1:152284827-152284877	HUVEC	blood vessel:	n/a
6	chr1:152284827-152284877	Jurkat	blood:	n/a
7	chr1:152284827-152284877	ovcar-3	ovarian:	n/a
8	chr1:152284827-152284877	HL-60	blood:	n/a
9	chr1:152284827-152284877	MCF-7	breast:	n/a
10	chr1:152284827-152284877	A549	lung:	n/a
11	chr1:152284827-152284877	T-47D	breast:	n/a
12	chr1:152284827-152284877	Caco-2	colon:	n/a
13	chr1:152284827-152284877	GM06990	blood:	n/a
14	chr1:152284827-152284877	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:152284827-152284877	IMR90	lung:	fetal
16	chr1:152284827-152284877	U87	brain:	n/a
17	chr1:152284827-152284877	Hela-S3	cervix:	n/a
18	chr1:152284827-152284877	NT2-D1	testis:	n/a
19	chr1:152284827-152284877	HRE	kidney:	n/a
20	chr1:152284827-152284877	MCF10A-Er-Src	breast:	n/a
21	chr1:152284827-152284877	ECC-1	luminal epithelium:	n/a
22	chr1:152284827-152284877	HCM	heart:	n/a
23	chr1:152284827-152284877	HRCEpiC	kidney:	n/a
24	chr1:152284827-152284877	HepG2	liver:	n/a
25	chr1:152284827-152284877	SK-N-MC	brain:	n/a
26	chr1:152284827-152284877	AG09319	gingival:	n/a
27	chr1:152284827-152284877	AG04449	skin:	fetal
28	chr1:152284827-152284877	CMK	blood:	n/a
29	chr1:152284827-152284877	AG10803	skin:	n/a
30	chr1:152284827-152284877	AG04450	lung:	fetal
31	chr1:152284827-152284877	H1-hESC	embryonic stem cell:	embryo
32	chr1:152284827-152284877	HCPEpiC	choroid plexus:	n/a
33	chr1:152284827-152284877	HEEpiC	esophagus:	n/a
34	chr1:152284827-152284877	HRPEpiC	eye:	n/a
35	chr1:152284827-152284877	Hepatocyte	liver:	n/a
36	chr1:152284827-152284877	SAEC	small airway:	n/a
37	chr1:152284827-152284877	GM12892	blood:	n/a
38	chr1:152284827-152284877	GM12891	blood:	n/a
39	chr1:152284827-152284877	HCF	heart:	n/a
40	chr1:152284827-152284877	BE2_C	brain:	n/a
41	chr1:152284827-152284877	PANC-1	pancreas:	n/a
42	chr1:152284827-152284877	NHDF-neo	bronchial:	n/a
43	chr1:152284827-152284877	BJ	skin:	n/a
44	chr1:152284827-152284877	GM19239	blood:	n/a
45	chr1:152284827-152284877	NH-A	brain:	n/a
46	chr1:152284827-152284877	ProgFib	skin:	n/a
47	chr1:152284827-152284877	NHBE	bronchial:	n/a
48	chr1:152284827-152284877	PFSK-1	brain:	n/a
49	chr1:152284827-152284877	NB4	blood:	n/a
50	chr1:152284827-152284877	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
FLG-AS1	CpG island

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10888478	0.82[EUR][1000 genomes]
rs11204976	0.95[EUR][1000 genomes]
rs11204978	0.80[EUR][1000 genomes]
rs11204980	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11204981	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11485508	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11576858	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11581433	0.81[EUR][1000 genomes]
rs11584340	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12027807	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12027899	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12045492	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12045496	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12065368	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12407553	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12407748	0.81[EUR][1000 genomes]
rs12409802	0.82[EUR][1000 genomes]
rs12730241	0.95[EUR][1000 genomes]
rs1858479	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1858480	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1858482	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2065955	0.81[AMR][1000 genomes]
rs2184950	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2184951	0.95[EUR][1000 genomes]
rs2184953	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2184954	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2338555	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2338556	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3091276	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3120642	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3120659	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3120661	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3120662	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3126054	0.84[EUR][1000 genomes]
rs3126055	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3126056	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3126058	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3126060	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3126062	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3126066	0.82[EUR][1000 genomes]
rs3126072	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3126074	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3126079	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3126085	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3126088	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3126089	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3126091	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126092	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3126094	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126095	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3126097	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3126098	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34188926	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41267154	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4256811	0.83[EUR][1000 genomes]
rs4341364	0.82[EUR][1000 genomes]
rs55650366	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57672167	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6587666	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6681433	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6681457	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66831674	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71625201	0.96[EUR][1000 genomes]
rs71625202	0.92[EUR][1000 genomes]
rs72697000	0.80[EUR][1000 genomes]
rs74129461	0.96[EUR][1000 genomes]
rs7540844	0.82[EUR][1000 genomes]
rs7543541	0.82[EUR][1000 genomes]
rs9435974	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9436062	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv18892	chr1:152274215-152287539	ZNF genes & repeats Strong transcription Weak transcription Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv471348	chr1:152274651-152297679	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1810816	chr1:152274993-152286236	Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1827528	chr1:152274993-152286236	Strong transcription ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1812211	chr1:152275193-152286036	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1826389	chr1:152275193-152286036	ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152278200-152288000	Weak transcription	Right Ventricle	heart
2	chr1:152280400-152286400	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:152282200-152285000	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr1:152283000-152286200	Weak transcription	Ovary	ovary
5	chr1:152283200-152285400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:152283600-152287000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:152284200-152285400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:152284600-152285200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:152284600-152285400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:152284600-152286000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:152284800-152285200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:152284800-152285200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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